Associated Papers
Elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis harbouring two CFTR Class I variants: real-world data from the French compassionate programme.
Burgel PR et al.
Eclinicalmedicine, 2025
Establishment and characterization of an induced pluripotent stem cell line from a Japanese cystic fibrosis patient with homozygous 1540del10 CFTR mutation.
Okumura H et al.
Genes & Diseases, 2025
Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.
Ahting S et al.
International Journal of Molecular Sciences, 2025
Vanzacaftor-tezacaftor-deutivacaftor versus elexacaftor-tezacaftor-ivacaftor in individuals with cystic fibrosis aged 12 years and older (SKYLINE Trials VX20-121-102 and VX20-121-103): results from two randomised, active-controlled, phase 3 trials.
Keating C et al.
The Lancet. Respiratory Medicine, 2025
Variability in disease severity among cystic fibrosis patients carrying residual-function variants: data from the European Cystic Fibrosis Society Patient Registry.
Mei-Zahav M et al.
Erj Open Research, 2025
A Retrospective, Longitudinal Registry Study on the Long-Term Durability of Ivacaftor Treatment in People with Cystic Fibrosis.
Merlo C et al.
Pulmonary Therapy, 2024
Multisite Verification of a Targeted CFTR Polymerase Chain Reaction/Capillary Electrophoresis Assay That Evaluates Pathogenic Variants Across Diverse Ethnic and Ancestral Groups.
Hall B et al.
Archives of Pathology & Laboratory Medicine, 2024
Long-term impact of ivacaftor on mortality rate and health outcomes in people with cystic fibrosis.
Merlo CA et al.
Thorax, 2024
Impact of elexacaftor/tezacaftor/ivacaftor therapy on lung clearance index and magnetic resonance imaging in children with cystic fibrosis and one or two F508del alleles.
Stahl M et al.
The European Respiratory Journal, 2024
Cystic fibrosis newborn screening in Switzerland - evaluation and scenarios for improvement after 11 years of follow-up.
Pedersen E et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2024
The Spectrum and Frequency of Cystic Fibrosis Mutations in Albanian Patients.
Kasmi I et al.
Balkan Journal of Medical Genetics : Bjmg, 2024
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024
Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X.
Mention K et al.
Human Molecular Genetics, 2023
Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts: Detection of the 50 most common disease-causing variants.
Jeppesen LD et al.
Prenatal Diagnosis, 2023
[Genetic revision of the Hungarian Cystic Fibrosis Registry].
Deák A et al.
Orvosi Hetilap, 2022
Forskolin-induced organoid swelling is associated with long-term cystic fibrosis disease progression.
Muilwijk D et al.
The European Respiratory Journal, 2022
Cystic fibrosis and jejunoileal atresia: A clinical case.
da Cunha SB et al.
Clinical Case Reports, 2022
Accounting for population structure in genetic studies of cystic fibrosis.
Kingston H et al.
Hgg Advances, 2022
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.
Ni Q et al.
Orphanet Journal of Rare Diseases, 2022
Identification and selection of healthy spermatozoa in heterozygous carriers of the Phe508del-variant of the CFTR-gene in assisted reproduction.
De Geyter J et al.
Scientific Reports, 2022
Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.
Bresnick K et al.
Bmj Open Respiratory Research, 2021
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.
Sicko RJ et al.
International Journal of Neonatal Screening, 2021
Magnetic Resonance Imaging Detects Progression of Lung Disease and Impact of Newborn Screening in Preschool Children with Cystic Fibrosis.
Stahl M et al.
American Journal of Respiratory and Critical Care Medicine, 2021
Tensin 1 (TNS1) is a modifier gene for low body mass index (BMI) in homozygous [F508del]CFTR patients.
Walton NI et al.
Physiological Reports, 2021
Prevalence of CBAVD in azoospermic men carrying pathogenic CFTR mutations - Evaluated in a cohort of 639 non-vasectomized azoospermic men.
Fedder J et al.
Andrology, 2021
Genetics of CFTR and male infertility.
Bieniek JM et al.
Translational Andrology and Urology, 2021
Molecular analysis of CFTR gene mutations among Iraqi cystic fibrosis patients.
Abdul-Qadir AG et al.
The Egyptian Journal of Medical Human Genetics, 2021
Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia.
Sinclair G et al.
International Journal of Neonatal Screening, 2020
Phenotypic Characterization and Comparison of Cystic Fibrosis Rat Models Generated Using CRISPR/Cas9 Gene Editing.
McCarron A et al.
The American Journal of Pathology, 2020
Sequencing as a first-line methodology for cystic fibrosis carrier screening.
Beauchamp KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools.
Pereira SV et al.
Scientific Reports, 2019
R560S: A class II CFTR mutation that is not rescued by current modulators.
Awatade NT et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2019
Guidelines for the clinical management and follow-up of infants with inconclusive cystic fibrosis diagnosis through newborn screening.
Sermet-Gaudelus I et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2017
Orkambi® and amplifier co-therapy improves function from a rare CFTR mutation in gene-edited cells and patient tissue.
Molinski SV et al.
Embo Molecular Medicine, 2017
Human pluripotent stem cell-derived acinar/ductal organoids generate human pancreas upon orthotopic transplantation and allow disease modelling.
Hohwieler M et al.
Gut, 2017
Comparison of Lung Clearance Index and Magnetic Resonance Imaging for Assessment of Lung Disease in Children with Cystic Fibrosis.
Stahl M et al.
American Journal of Respiratory and Critical Care Medicine, 2017
Cystic Fibrosis in the African Diaspora.
Stewart C et al.
Annals of the American Thoracic Society, 2017
Novel CFTR Mutations in Two Iranian Families with Severe Cystic Fibrosis.
Mohseni M et al.
Iranian Biomedical Journal, 2016
Improving the Sensitivity and Positive Predictive Value in a Cystic Fibrosis Newborn Screening Program Using a Repeat Immunoreactive Trypsinogen and Genetic Analysis.
Sontag MK et al.
The Journal of Pediatrics, 2016
The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.
Girardet A et al.
European Journal of Human Genetics : Ejhg, 2016
Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.
Baker MW et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Molecular Diagnosis of Cystic Fibrosis.
Deignan JL et al.
Current Protocols in Human Genetics, 2016
The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients: Implications for Molecular Diagnostic Testing.
Schrijver I et al.
The Journal of Molecular Diagnostics : Jmd, 2016
Assessing the improvements in the newborn screening strategy for cystic fibrosis in the Balearic Islands.
Bauça JM et al.
Clinical Biochemistry, 2015
Molecular genetic testing for cystic fibrosis: laboratory performance on the College of American Pathologists external proficiency surveys.
Lyon E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015